TY - JOUR
T1 - Structural imaging in the presymptomatic stage of genetically determined parkinsonism
AU - Reetz, Kathrin
AU - Tadic, Vera
AU - Kasten, Meike
AU - Brüggemann, Norbert
AU - Schmidt, Alexander
AU - Hagenah, Johann
AU - Pramstaller, Peter P
AU - Ramirez, Alfredo
AU - Behrens, Maria I
AU - Siebner, Hartwig R
AU - Klein, Christine
AU - Binkofski, Ferdinand
PY - 2010
Y1 - 2010
N2 - Several genes associated with monogenic forms of Parkinson's disease (PD) have been discovered, opening up new avenues for the investigation of presymptomatic stages of PD. Using voxel-based morphometry in 30 asymptomatic mutation carriers (MC) with mutations in four different genes for PD and 100 healthy controls, we identified an increase in gray matter volume (GMV) in the striatum in asymptomatic Parkin, PINK1, ATP13A2 and, to a much lesser extent, in LRRK2 MC. Moreover, an increase in GMV was found in the parieto-temporo-occipital association cortex in asymptomatic Parkin and ATP13A2 MC. The observed striatal GMV increase might be the common structural correlate of compensatory mechanisms due to the latent dopaminergic deficit, reflecting the different, but probably interrelated pathogenic pathways resulting in nigral cell death. Asymptomatic PINK1 and LRRK2 MC also revealed smaller GMV in the hippocampal region, which might play a role in the observed psychiatric disorders.
AB - Several genes associated with monogenic forms of Parkinson's disease (PD) have been discovered, opening up new avenues for the investigation of presymptomatic stages of PD. Using voxel-based morphometry in 30 asymptomatic mutation carriers (MC) with mutations in four different genes for PD and 100 healthy controls, we identified an increase in gray matter volume (GMV) in the striatum in asymptomatic Parkin, PINK1, ATP13A2 and, to a much lesser extent, in LRRK2 MC. Moreover, an increase in GMV was found in the parieto-temporo-occipital association cortex in asymptomatic Parkin and ATP13A2 MC. The observed striatal GMV increase might be the common structural correlate of compensatory mechanisms due to the latent dopaminergic deficit, reflecting the different, but probably interrelated pathogenic pathways resulting in nigral cell death. Asymptomatic PINK1 and LRRK2 MC also revealed smaller GMV in the hippocampal region, which might play a role in the observed psychiatric disorders.
KW - Adult
KW - Brain
KW - Humans
KW - Image Processing, Computer-Assisted
KW - Magnetic Resonance Imaging
KW - Middle Aged
KW - Nerve Fibers, Unmyelinated
KW - Parkinsonian Disorders
KW - Patient Selection
KW - Protein Kinases
KW - Protein-Serine-Threonine Kinases
KW - Proton-Translocating ATPases
KW - Ubiquitin-Protein Ligases
U2 - 10.1016/j.nbd.2010.05.006
DO - 10.1016/j.nbd.2010.05.006
M3 - Journal article
C2 - 20483373
SN - 1095-953X
VL - 39
SP - 402
EP - 408
JO - Neurobiology of Disease
JF - Neurobiology of Disease
IS - 3
ER -